Home Print this page Email this page Small font sizeDefault font sizeIncrease font size
Users Online: 302
 
About us Editorial board Search Ahead of print Current issue Archives Submit article Instructions Subscribe Contacts Advertise Login 
     
CASE REPORT
Year : 2018  |  Volume : 7  |  Issue : 1  |  Page : 59-62

Decoding of tyrosinase leads to albinism in a nonidentical twin


1 Department of Genetics, Aravind Medical Research Foundation, Dr. G. Venkataswamy Eye Research Institute, Madurai, Tamil Nadu, India
2 Pediatric Clinic, Aravind Eye Hospital, Madurai, Tamil Nadu, India

Correspondence Address:
Dr. Periasamy Sundaresan
Department of Genetics, Aravind Medical Research Foundation, Dr. G.Venkataswamy Eye Research Institute, Aravind Eye Hospital, No.1, Anna Nagar, Madurai - 625 020, Tamil Nadu
India
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/jcn.JCN_84_17

Rights and Permissions

Oculocutaneous albinism (OCA) is an autosomal recessive disorder, phenotypically subcategorized as OCA subtype 1A (OCA-1A) and OCA subtype 1B (OCA-1B). Both the subtypes are genetically caused by the mutations in the tyrosinase (TYR) gene. A 6-month-old nonidentical twin sister was albino who was diagnosed with OCA-1A and had clinical features including hypopigmentation in iris, lid, lashes, skin, nystagmus, and albinotic fundus. Genetic screening revealed the pathogenic mutation at TYR gene locus in albino child, whereas the other child was carrier and holding normal phenotype. We report a differential TYR expression pattern on one of the nonidentical twins.


[FULL TEXT] [PDF]*
Print this article     Email this article
 Next article
 Previous article
 Table of Contents

 Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
 Citation Manager
 Access Statistics
 Reader Comments
 Email Alert *
 Add to My List *
 * Requires registration (Free)
 

 Article Access Statistics
    Viewed2954    
    Printed55    
    Emailed0    
    PDF Downloaded227    
    Comments [Add]    

Recommend this journal